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The EPAS1 gene is in complete linkage disequilibrium and form a haplotype associated with adaptation to high altitudes . The study by Gou et al. 2014 divided dogs by region in China (low altitude [Kunming- Yingjiang], moderate altitude [Lijiang] and high altitude [Cuomei, Tibet]), and found that the frequency of this haplotype is fixed in breeds from high altitudes, for example the Tibetan Mastiff (allele frequency 94%). Breeds that are domesticated in low altitude environments (Kunming dogs) almost never have this haplotype [0% n=41 dogs]. In humans, EPAS1 variants have also been shown to be associated with adaption to high altitudes , this gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. In a homozygous state, the c.925G>A SNP was found to be associated with decreased vascular resistance suggesting that the improvement of blood fluidity, would confer advantages for oxygen delivery in oxygen deprived environments.
Trait (Associated with Phenotype)
SNPs c.925G>A, c.1494T>G, c.1510G>A and c.2260C>T
It is a trait and so is tested based on preference, not usually for health concerns.
Mode of Inheritance:
Gou X, et al. Genome Res, 2014 Aug, PMID: 24721644
Hu H, et al. PLoS Genet, 2017 Apr. PMID 28448578
Associated Breed(s):All Breeds (Canine), Mixed Breed,